Variant report

Variant	rs4251480
Chromosome Location	chr12:44168335-44168336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44167094..44168605-chr12:44198277..44200117,2	K562	blood:
2	chr12:44152066..44153921-chr12:44167633..44170517,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11182349	1.00[YRI][hapmap]
rs11182353	1.00[YRI][hapmap]
rs11182354	1.00[YRI][hapmap]
rs11182355	1.00[YRI][hapmap]
rs4251420	1.00[YRI][hapmap]
rs4251434	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4251454	1.00[YRI][hapmap]
rs4251509	1.00[AFR][1000 genomes]
rs4251550	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44153800-44174200	Weak transcription	Right Ventricle	heart
2	chr12:44154000-44174000	Weak transcription	HSMMtube	muscle
3	chr12:44154200-44172800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:44154200-44189600	Weak transcription	A549	lung
6	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:44154200-44199200	Weak transcription	Gastric	stomach
8	chr12:44154400-44168400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:44154400-44174200	Weak transcription	Colonic Mucosa	Colon
10	chr12:44154400-44178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:44154400-44181200	Weak transcription	Aorta	Aorta
12	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
14	chr12:44154600-44172200	Weak transcription	Ovary	ovary
15	chr12:44154600-44172200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:44154600-44172600	Weak transcription	Lung	lung
17	chr12:44154600-44172800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:44154600-44174400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:44154600-44174800	Weak transcription	Small Intestine	intestine
20	chr12:44154600-44178000	Weak transcription	Fetal Stomach	stomach
21	chr12:44154600-44178000	Weak transcription	Spleen	Spleen
22	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
24	chr12:44154800-44173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:44155600-44168600	Weak transcription	K562	blood
26	chr12:44156200-44172800	Weak transcription	Pancreas	Pancrea
27	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:44157800-44168600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:44158200-44182800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:44159000-44174800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:44159000-44177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:44159000-44189000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:44159200-44188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:44159400-44187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:44160400-44168600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:44160400-44172600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:44160600-44174600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:44160600-44182400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:44160600-44183600	Weak transcription	Fetal Heart	heart
40	chr12:44160800-44172200	Weak transcription	HMEC	breast
41	chr12:44160800-44174600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:44160800-44174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:44160800-44174800	Weak transcription	NHEK	skin
44	chr12:44161200-44182400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:44161600-44183400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:44161600-44183400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:44161800-44169200	Strong transcription	Primary B cells from cord blood	blood
48	chr12:44161800-44170400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:44161800-44183800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:44162000-44169000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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